Classification and Functional Stratification of the Patients With Ciliopathy and Identification of Biomarkers to Improve Their Prognosis

Status: Recruiting
Location: See location...
Intervention Type: Other
Study Type: Interventional
Study Phase: Not Applicable
SUMMARY

The purpose of the C'IL-LICO RICM study is to develop innovative and transformative diagnostic and prognostic for patients suffering from ciliopathies leading to renal failure. The objectives is to decipher disease mechanisms and highlight signaling pathways altered in at-risk to develop renal failure patient groups and to produce a prognostic biomarker-based kit to predict the evolution of ciliopathy patients towards renal impairment.

Eligibility
Participation Requirements
Sex: All
Healthy Volunteers: No
View:

• Case Patient :

• with nephronophthisis or ciliopathy with known genetic diagnosis or not

• signed the Informed consent form (patient or legal guardians if minor/incapable major)

• no limit of age, this patients could be recruited from the birth

• social insurance affiliation

• Healthy related individual :

• related with a included patient (father, mother, brother, sister)

• signed the Informed consent form (major or legal guardians if minor/incapable major)

• no limit of age, this patients could be recruited from the birth

• social insurance affiliation

• Negative Control patient :

• without chronic renal failure

• signed the Informed consent form (major or legal guardians if minor/incapable major)

• no limit of age, this patients could be recruited from the birth

• social insurance affiliation

• Positive Control patient :

• with chronic renal failure not related with a ciliary dysfunction

• signed the Informed consent form (major or legal guardians if minor/incapable major)

• no limit of age, this patients could be recruited from the birth

• social insurance affiliation

Locations
Other Locations
France
Hôpital Necker-Enfants Malades
Recruiting
Paris
Contact Information
Primary
Stanislas LYONNET, MD, PhD
stanislas.lyonnet@aphp.fr
(33) 1 42 75 49 96
Backup
Sandra COLAS
sandra.colas@aphp.fr
+33 1 71 19 64 32
Time Frame
Start Date: November 8, 2021
Estimated Completion Date: November 2024
Participants
Target number of participants: 240
Treatments
Other: Case Patient
Patient with ciliopathy
Other: Healthy related individual
Individual without ciliopathy but related to a patient with ciliopathy (father, mother, brother, sister)
Other: Negative Control patient
patient without renal disease
Other: Positive Control patient
patient with renal disease other that ciliopathy but with a similar renal function to the ciliopathy group (case patient)
Sponsors
Leads: Assistance Publique - Hôpitaux de Paris

This content was sourced from clinicaltrials.gov